Scientists Score a Breakthrough with Parkinson’s in a Petri Dish

Parkinson’s disease (PD) is a relatively rare but devastating condition affecting 1-2% of Americans. Although some risk factors are known — including genetic variants that predispose to the condition — its exact causes and mechanisms remain a mystery, and development of treatments has been slow.

23andMe chose to focus on Parkinson’s disease for our first disease research community and we’ve made great strides in the two years since it launched. Our Parkinson’s research initiative was also featured in a Wired article last summer called “Sergey’s Search,” referring to Google co-founder Sergey Brin. Sergey’s mother, Genia Brin, suffers from Parkinson’s disease and learned from 23andMe that she carries two copies of the Parkinson’s-associated LRRK2 G2019S genetic variant. Sergey carries one copy of the variant. The knowledge has prompted them to take a more active role in research, including a breakthrough study published this month in Cell: Stem Cell in which Genia Brin played a crucial part.

With skin cells from Brin, scientists led by Renee Reijo Pera at Stanford University and William Langston at the nearby Parkinson’s Institute were able to generate the first human Parkinson’s cell line that exhibits features of the disease in the petri dish. They first turned the skin cells into a type of stem cell (induced pluripotent stem cells, or iPSCs) and then transformed those stem cells into dopaminergic neurons, the same kind of neurons affected in people with PD.

Incredibly, these derived neurons quickly started showing signs indicative of Parkinson’s in the lab, including the accumulation of certain telltale proteins. The scientists believe that the stress of being in a petri dish for several months induced the neurons to behave more like neurons exposed to decades of environmental stress. They also observed that the neurons were more susceptible to hydrogen peroxide damage compared to other cell types.

Their findings represent a major step forward for PD research. The researchers can conduct further experiments on the new PD cell line to see what other factors contribute to PD-like symptoms and whether specific interventions have beneficial effects. Their observation that the PD neurons are especially sensitive to harmful reactive chemicals like hydrogen peroxide is also an important jumping off point for investigating potential treatments.

Genia Brin herself was impressed with what the scientists were able to accomplish with her cells.

“It is a bad disease and its biological basis is little understood. Research has been pretty slow,” she said in statements to the San Jose Mercury News. “I was hoping they would learn something from it, and they did. … Now they can experiment with [my cells].”

Thank you. My dad had parkinsons and we always thought it was a result of a head injury he had a as a child (He had a baseball hit squarey in the middle of his forehead and it left an indent….could be beyond that. We appreiciate your discoveries. mm

Mike

So, still no useful genomics results to come out of the collaboration between 23andme and the Parkinsons Institute? The genes cited have been known to have familial risk factors for a decade. What about the majority of patients who get PD that dont express these genetic defects? Please look for more genes, or else focus research on non-genetic factors and admit inability to detect a heritable genetic basis.

Thanks for your interest! As we mentioned in our recent Parkinson’s community update, 23andMe has indeed discovered novel genetic associations for Parkinson’s with the help of our participant community. These findings have been submitted for publication, though it will still be some time before they make it through the peer review process. As the community grows larger, the ability to study complex associations such as environmental factors or gene-environment interactions will also become feasible, and this is certainly something we will be investigating.

Fran

My husband recently passed away. He worked 40+ years on the railroad (some of it back to the years of steam) and always believed that his PD was a result of environmental issues.
I will continue to read with interest as you research. Keep up the good work.

Non-genetic factors do play a strong role in the development of Parkinson’s. If you are not already participating in our Parkinson’s research community, we encourage you to join. If you are near San Diego or New York City, 23andMe will be hosting booths at both the Parkinson’s Unity Walk in Central Park and the PASD 5k Walk/Run in Point Loma tomorrow, April 16th. You can visit us at one of those walks to sign up to contribute to research and help us discover more about the causes of Parkinson’s. Or, you can learn more about joining online at http://www.23andme.com/pd. Best wishes!

Jon Scarborough

…”signs indicative of Parkinson’s”
Can you give me a list of these “signs” exhibited by the cells in a dish?

There were two major signs that the researchers took as evidence that the neurons were exhibiting behaviors typical for Parkinson’s: they were accumulating proteins like alpha-synuclein that accumulate in the brains of people with Parkinson’s (normal cells did not do this), and genes that respond to environmental stress were more active in those neurons than in normal cells.

stephanie

Just wondering about a theroy I have about what causes PD to start with women – It’s been 4 generations in my family & I now have it- when I hit 50 & when I stopped having periods my PD kicked in – the same with my mom & two other women I’ve met with PD. My question is when estrogen is depleted – could that start PD in women – does estrogen help protect women? Does anyone else w/ PD find this to be true with them true? Is research being done on this?

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